Browsing by Author "Basu, Samit"
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Publication Sanfilippo Disease(Nepal Paediatric Society (JNPS), 2012) Barik, Kanal Lal; Kumar, Prabhat; Ghosh, Tark Nath; De, Sangita; Basu, SamitAbstract: Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members.